ONLINE MUTATION REPORT

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene

S Tomatsu¹, T Nishioka¹, A M Montaño², M A Gutierrez¹, O S Pena¹, K O Orii³, W S Sly³, S Yamaguchi⁴, T Orii⁵, E Paschke⁶, S G Kircher⁷ and A Noguchi¹

¹ Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St. Louis, MO, USA
² Department of Biosystems Science, The Graduate University for Advanced Studies, Kanagawa, Japan
³ E.A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO, USA
⁴ Department of Pediatrics, Shimane University, Izumo, Japan
⁵ Department of Pediatrics, Gifu University, Gifu, Japan
⁶ Laboratory of Metabolic Diseases, Department of Pediatrics, University of Graz, Austria
⁷ Institute of Medical Chemistry, University of Vienna, Austria

Correspondence to:
Correspondence to:
S Tomatsu
Department of Pediatrics, Saint Louis University, Pediatric Research Institute, 3662 Park Ave, St. Louis, MO 63110-2586, USA; tomatsus@slu.edu

Received 30 December 2003

Accepted 5 February 2004

Abbreviations: C6S, chondroitin-6-sulfate; GAGs, glycosaminoglycans; GALNS, N-acetylgalactosamine-6-sulfate sulfatase; KS, keratan sulfate; SSCP, single-strand conformation polymorphism

Keywords: CpG dinucleotide; GALNS; methylation; mucopolysaccharidosis IVA; recurrent mutation

The first 150 words of the full text of this article appear below.

Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disorder caused by a deficiency of the lysosomal N-acetylgalactosamine-6-sulfate sulfatase (GALNS; E.C.3.1.6.4; OMIM# 253000). GALNS is one of the sulfatases required to degrade glycosaminoglycans (GAGs), keratan sulfate (KS), and chondroitin-6-sulfate (C6S). GALNS deficiency results in lysosomal storage disease. As in other mucopolysaccharidoses, MPS IVA patients have a broad spectrum of clinical severity. Phenotypes vary from the classical form with severe bone dysplasia (spondyloepiphyseal dysplasia), short trunk dwarfism, coxa valga, odontoid hypoplasia, corneal opacity, and a life span of 20–30 years, to a milder (attenuated) form. The patients with a milder form may have a normal quality of life and mild bone and visceral organ involvement. The broad spectrum of clinical phenotypes seen in MPS IVA is presumed to be generated by multiple different GALNS mutations. Investigations of the molecular nature of MPS IVA have been facilitated by purifying the . . . [Full text of this article]

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